{"id":"W2976674170","doi":"10.1038/s41431-019-0519-x","title":"Severe neurodevelopmental disease caused by a homozygous TLK2 variant","year":2019,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Human Genome Research Institute; National Heart, Lung, and Blood Institute; Türkiye Bilimsel ve Teknolojik Araştırma Kurumu; Medical Research Council; Newton Fund; Broad Institute; National Eye Institute; Wellcome Trust","keywords":"Missense mutation; Haploinsufficiency; Genetics; Exome sequencing; Biology; Phenotype; Exon; Compound heterozygosity; Disease; Exome; Gene; Neurodevelopmental disorder; Heterozygote advantage; Allele; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000104502,0.00139412,0.0005824338,0.0006183432,0.0004099073,0.0003408296,0.0002678181,0.0008106155,0.001659145],"category_scores_gemma":[0.0004394542,0.0001995055,0.000334132,0.0004582803,0.0006403624,0.0001977014,0.0008242041,0.0004828868,0.0004939286],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002396627,"about_ca_system_score_gemma":0.0003023565,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001034942,"about_ca_topic_score_gemma":0.001243266,"domain_scores_codex":[0.9998274,0.00001571611,0.00002470685,0.00006003882,0.00003888179,0.00003333127],"domain_scores_gemma":[0.9997862,0.00004276951,0.0000691227,0.00001574605,0.00001560524,0.00007054582],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000409023,0.00005125513,0.01411809,0.000177706,0.0001327007,0.7186111,0.0003984731,0.0004724337,0.2579634,0.0008436093,0.0007792101,0.006043052],"study_design_scores_gemma":[0.00009835701,0.0004415233,0.07717645,0.00003257419,0.0001636323,0.8638308,0.0002222958,0.001095632,0.05232417,0.0006506097,0.003902648,0.00006124799],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947428,0.0005522783,0.001835779,0.0001348352,0.00004941819,0.00002284888,0.0006665485,0.0001350595,0.001860467],"genre_scores_gemma":[0.9978263,0.0002360878,0.0006153611,0.00006860019,0.00002613631,0.000008704318,0.0003518446,0.00003277187,0.0008342374],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001659145,"threshold_uncertainty_score":0.005550444,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006841843221110016,"score_gpt":0.2074232609902779,"score_spread":0.2005814177691679,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}